Linked Data
ClinVar Variation Id:
12462
dbSNP Id:
rs104894129
gnomAD v3:
9-35685672-C-T
gnomAD v4:
9-35685672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35685672C>T , CM000671.2:g.35685672C>T | GRCh38 |
| NC_000009.11:g.35685669C>T , CM000671.1:g.35685669C>T | GRCh37 |
| NC_000009.10:g.35675669C>T | NCBI36 |
| NG_011620.1:g.9386G>A , LRG_680:g.9386G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378292.9:c.349G>A | ENSP00000367542.3:p.Glu117Lys | |
| ENST00000643485.1:n.184G>A | ||
| ENST00000645482.3:c.349G>A MANE Select | ENSP00000496494.2:p.Glu117Lys | |
| ENST00000647435.1:c.349G>A | ENSP00000495440.1:p.Glu117Lys | |
| ENST00000329305.6:c.349G>A | ENSP00000367541.1:p.Glu117Lys | |
| ENST00000360958.6:c.349G>A | ENSP00000354219.2:p.Glu117Lys | |
| ENST00000378292.7:c.349G>A | ENSP00000367542.3:p.Glu117Lys | |
| ENST00000378300.9:c.349G>A | ENSP00000367550.5:p.Glu117Lys | |
| ENST00000471212.5:n.432G>A | ||
| ENST00000604975.1:n.235G>A | ||
| NM_001301226.1:c.349G>A | NP_001288155.1:p.Glu117Lys | |
| NM_001301227.1:c.349G>A | NP_001288156.1:p.Glu117Lys | |
| NM_003289.3:c.349G>A , LRG_680t2:c.349G>A | NP_003280.2:p.Glu117Lys | |
| NM_213674.1:c.349G>A , LRG_680t1:c.349G>A | NP_998839.1:p.Glu117Lys | |
| XR_929320.1:n.457G>A | ||
| XR_929321.1:n.457G>A | ||
| XR_929322.1:n.457G>A | ||
| XR_929323.1:n.457G>A | ||
| XR_929324.1:n.460G>A | ||
| XR_929325.1:n.457G>A | ||
| XM_017015087.2:c.349G>A | XP_016870576.1:p.Glu117Lys | |
| XM_017015088.2:c.349G>A | XP_016870577.1:p.Glu117Lys | |
| XM_017015090.2:c.349G>A | XP_016870579.1:p.Glu117Lys | |
| XM_017015091.2:c.349G>A | XP_016870580.1:p.Glu117Lys | |
| XM_017015092.2:c.349G>A | XP_016870581.1:p.Glu117Lys | |
| XM_017015093.2:c.349G>A | XP_016870582.1:p.Glu117Lys | |
| NM_001301226.2:c.349G>A | NP_001288155.1:p.Glu117Lys | |
| NM_003289.4:c.349G>A MANE Select | NP_003280.2:p.Glu117Lys | |
| NM_001301227.2:c.349G>A | NP_001288156.1:p.Glu117Lys |